Variant report

Variant	nsv975465
Chromosome Location	chr12:29456482-29462628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:29462346..29462982-chr12:29670343..29670928,2	K562	blood:
2	chr12:29462295..29465782-chr12:29467175..29469867,4	K562	blood:
3	chr12:29461962..29462875-chr12:29672549..29673138,2	MCF-7	breast:
4	chr12:29458406..29460957-chr12:29462899..29465425,2	K562	blood:
5	chr12:29462295..29464942-chr12:29467954..29469867,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERGIC2-2	chr12:29460783-29460977	ENSG00000245593
2	lnc-ERGIC2-2	chr12:29460783-29460977	NONHSAT027487
3	lnc-ERGIC2-2	chr12:29460783-29460977	ENSG00000257176.1

No data

Variant related genes	Relation type
ENSG00000257456	chromatin interactions
TAF15	miRNA target sites

Extended variants
information (count: 218 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7957339	chr12:29456495-29456496	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574675587	chr12:29456517-29456518	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144557032	chr12:29456566-29456567	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536718238	chr12:29456607-29456608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536284129	chr12:29456614-29456615	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548429299	chr12:29456655-29456656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139263120	chr12:29456660-29456661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374326466	chr12:29456699-29456700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548166225	chr12:29456702-29456703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184912470	chr12:29456746-29456747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188302549	chr12:29456753-29456754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543944751	chr12:29456778-29456779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367997067	chr12:29456806-29456807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565346598	chr12:29456841-29456842	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181856447	chr12:29456843-29456844	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532574222	chr12:29456854-29456855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71438657	chr12:29456856-29456857	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559683944	chr12:29456873-29456874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530373036	chr12:29456897-29456898	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187628378	chr12:29456900-29456901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192024536	chr12:29456919-29456920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531097290	chr12:29456957-29456958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7306412	chr12:29457003-29457004	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4545600	chr12:29457034-29457035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183562546	chr12:29457103-29457104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143699382	chr12:29457121-29457122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552587223	chr12:29457218-29457219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568047551	chr12:29457308-29457309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535390616	chr12:29457363-29457364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146814696	chr12:29457375-29457376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367907493	chr12:29457441-29457442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186776725	chr12:29457492-29457493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190087093	chr12:29457493-29457494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79082300	chr12:29457515-29457516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113862292	chr12:29457540-29457541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6487805	chr12:29457550-29457551	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs2113538	chr12:29457553-29457554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6487806	chr12:29457566-29457567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182821082	chr12:29457579-29457580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553702447	chr12:29457585-29457586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186785738	chr12:29457676-29457677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542173939	chr12:29457707-29457708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563979219	chr12:29457765-29457766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531086381	chr12:29457801-29457802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557011058	chr12:29457810-29457811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571979248	chr12:29457926-29457927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564328008	chr12:29457936-29457937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528215265	chr12:29457942-29457943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575487387	chr12:29457970-29457971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542684790	chr12:29458036-29458037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29417200-29465400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:29422000-29465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:29426800-29472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
5	chr12:29429000-29460200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:29429200-29463600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:29429400-29460400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:29435400-29467200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:29439600-29464000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:29439600-29469400	Weak transcription	NH-A	brain
11	chr12:29443400-29460200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:29446200-29465000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:29449600-29470800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:29452000-29457800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:29452800-29465200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:29452800-29494200	Weak transcription	Lung	lung
17	chr12:29453000-29465200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:29453000-29472800	Weak transcription	Fetal Intestine Large	intestine
19	chr12:29453200-29461800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:29453800-29480000	Weak transcription	Gastric	stomach
21	chr12:29454400-29463800	Weak transcription	HUVEC	blood vessel
22	chr12:29454600-29475800	Weak transcription	Spleen	Spleen
23	chr12:29455200-29489400	Weak transcription	Primary B cells from cord blood	blood
24	chr12:29455400-29458000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:29456000-29469600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:29456400-29456600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:29456400-29456600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:29456400-29456600	Enhancers	Fetal Intestine Small	intestine
29	chr12:29456400-29457000	Enhancers	Left Ventricle	heart
30	chr12:29456400-29457000	Enhancers	Right Atrium	heart
31	chr12:29456600-29457000	Enhancers	Adipose Nuclei	Adipose
32	chr12:29456600-29465800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:29456600-29471000	Weak transcription	Fetal Intestine Small	intestine
34	chr12:29457000-29465200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:29457000-29467400	Weak transcription	Left Ventricle	heart
36	chr12:29457600-29470600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:29457800-29458400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:29458000-29460000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:29458400-29459800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:29458600-29467400	Weak transcription	Brain Anterior Caudate	brain
41	chr12:29459200-29460800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:29459200-29462600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:29459200-29464800	Weak transcription	Dnd41	blood
44	chr12:29459400-29471400	Weak transcription	Liver	Liver
45	chr12:29459400-29493000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:29459600-29472800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:29459600-29476000	Weak transcription	Fetal Thymus	thymus
48	chr12:29459800-29461200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:29459800-29465000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:29460000-29461800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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